Apolipoprotein E and apolipoprotein CI polymorphisms in the Czech population: almost complete linkage disequilibrium of the less frequent alleles of both polymorphisms.
Apolipoprotein E and apolipoprotein CI polymorphisms in the Czech population: almost complete linkage disequilibrium of the less frequent alleles of both polymorphisms.
复制标题
捷克人群中的载脂蛋白 E 和载脂蛋白 CI 多态性：两种多态性的不太常见的等位基因几乎完全连锁不平衡。
作者：
J. Hubacek;J. Piťha;V. Adámková;Z. Škodová;V. Lánská;R. Poledne
载脂蛋白E和CI是富含甘油三酯的脂蛋白的主要组分。这两个基因位于一个基因簇中，并且都是多态的。APOE基因的三个等位基因（ε 2、ε 3和ε 4）多态性影响血浆胆固醇水平。这些等位基因的分布在不同的种族群体之间是不同的。PCR基因分型用于确定APOE和APOCI等位基因的发生率在一组代表性的653先证者（302名男性和351名女性）的捷克血统。ε 2、ε 3和ε 4等位基因的相对频率分别为7.1%、82.0%和10.9%，与其他中欧人群相似。载脂蛋白ε 4携带者血浆总胆固醇水平最高，载脂蛋白ε 2携带者血浆总胆固醇水平最低（p<0.0001），低密度脂蛋白胆固醇水平最低（p<0.0001）。APOCI多态性的插入（I）等位基因（存在HpaI限制性位点）的频率为18.5%。APOCI I/I纯合子具有最高水平的甘油三酯（p<0.003）。已检测到APOCI的插入等位基因与APOE等位基因ε 2和ε 4的几乎完全连锁不平衡，并表明APOCI基因中的缺失可能是在APO ε 3等位基因背景上衍生所有三个APOE等位基因之后。
Apolipoproteins E and CI are the predominant components of triglyceride-rich lipoproteins. The genes are located in one gene cluster and both are polymorphic. Three allelic (epsilon2, epsilon3 and epsilon4) polymorphisms of the APOE gene influence plasma cholesterol levels. The distribution of these alleles differ between ethnic groups. PCR genotyping was used to determine the APOE and APOCI allele incidence in a representative group of 653 probands (302 men and 351 women) of Czech origin. The observed relative frequencies for the epsilon2, epsilon3 and epsilon4 alleles were 7.1 %, 82.0 % and 10.9 %, respectively, and are similar to other middle European populations. APO epsilon4 carriers have the highest and APO epsilon2 carriers the lowest levels of plasma total cholesterol (p<0.0001) and LDL cholesterol (p<0.0001). The frequency of the insertion (I) allele (HpaI restriction site present) of the APOCI polymorphism was 18.5 %. APOCI I/I homozygotes have the highest level of triglycerides (p<0.003). An almost complete linkage disequilibrium of the insertion allele of APOCI with the APOE alleles epsilon2 and epsilon4 has been detected and suggests that the deletion in the APOCI gene probably follows the deriving of all three APOE alleles on the APO epsilon3 allele background.
影响因子：
6.5
作者：
J. Hixson;D. T. Vernier
通讯作者：
J. Hixson;D. T. Vernier
影响因子：
64.8
作者：
Rhinn, Herve;Fujita, Ryousuke;Abeliovich, Asa
通讯作者：
Abeliovich, Asa
影响因子：
9.8
作者：
Fullerton, SM;Clark, AG;Sing, CF
通讯作者：
Sing, CF